Allele frequencies of cystic fibrosis-linked markers and F508 deletion in affected Hungarian families.

Abstract

Linked marker haplotype analysis of 16 cystic fibrosis (CF)-affected children, 3 fetuses, 1 healthy child and their parents was performed by restriction fragment length polymorphism (RFLP) for J3.11, Met H, Met D, XV-2c, KM.19 markers. Polymerase chain reaction (PCR) to detect the main mutation of CF chromosome, a specific 3 base pair (bp) deletion (delta F508) was also performed in 17 CF patients. Allelic frequencies on analysed CF chromosomes were: J3.11/Taq I 1.0, 0.0, J3.11/Msp I 0.44, 0.56, Met H/Taq I 0.73, 0.27, Met H/Msp I 0.80, 0.20, Met D/Taq I 0.75, 0.25, XV-2c/Taq I 0.85, 0.15, KM.19/Pst I 0.17, 0.83 for allele 1 and 2, respectively. Two markers, Met H and KM.19 were found to be in strong association with the CF mutation. The frequency of the delta F508 mutation on all 34 CF chromosomes was 0.65 (of which 0.73 was homozygous and 0.27 heterozygous for this deletion).